rs2241712, a SNP in the promoter region of the transforming growth factor beta1 TGFB1 gene has been associated with increased risk for chronic obstructive pulmonary disease (COPD). Although smoking is the main risk factor, smokers with a rs2241712(A) allele (or 2 other TGFB1 SNPs, rs1982073 and rs1800469) were more likely to develop COPD, based on a study of ~700 Caucasian subjects [PMID 15175276]
[PMID 19096005] asthma rs2241712(A) and rs1800469(C) associated with increased airway responsiveness
[PMID 22053598] Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population
[PMID 16704031] Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.
[PMID 17686149] Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery.
[PMID 18670143] The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.
[PMID 21320324] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
[PMID 21556788] Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.
[PMID 23267696] Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study